ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.821-7A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804257 SCV000944157 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-08-29 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the GALT gene. It does not directly change the encoded amino acid sequence of the GALT protein. This variant is present in population databases (rs767337193, ExAC 0.08%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in individuals with GALT-related conditions (PMID: 20547145, 25124065). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have shown that this intronic change leads to a splicing defect (PMID: 20547145) For these reasons, this variant has been classified as Pathogenic.

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